MAMMALIAN PHENOTYPE - ANNOTATIONS
The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term: lipodystrophy
Accession: MP:0011174
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Definition: abnormal or degenerative conditions of the body's adipose tissue resulting in bodily or focal loss and the appearance of redistribution of fat tissue; adipose tissue loss may be total, partial, or localized
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Agpat2
1-acylglycerol-3-phosphate O-acyltransferase 2
IAGP
MGI
PMID:21051554
NCBI chr 2:26,483,069...26,494,429
Ensembl chr 2:26,483,069...26,494,429
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Ap1s2
adaptor-related protein complex 1, sigma 2 subunit
IAGP
MGI
PMID:24928897
NCBI chr X:162,691,427...162,716,662
Ensembl chr X:162,692,013...162,716,662
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Atp6v0d1
ATPase, H+ transporting, lysosomal V0 subunit D1
IAGP
MGI
PMID:38505620
NCBI chr 8:106,251,093...106,292,696
Ensembl chr 8:106,251,097...106,292,679
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Bscl2
BSCL2 lipid droplet biogenesis associated, seipin
IAGP
MGI
PMID:23680914 PMID:24778225 PMID:29459250
NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047 Ensembl chr 2:8,814,831...8,826,047
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Bub1b
BUB1B, mitotic checkpoint serine/threonine kinase
IAGP
MGI
PMID:31738183
NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072
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Cavin3
caveolae associated 3
IAGP
MGI
PMID:24069528
NCBI chr 7:105,129,823...105,131,404
Ensembl chr 7:105,129,290...105,131,507
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Ercc6
excision repair cross-complementing rodent repair deficiency, complementation group 6
IAGP
MGI
PMID:17326724
NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947
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Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:27573812
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336
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Med19
mediator complex subunit 19
IAGP
MGI
PMID:33027649
NCBI chr 2:84,508,769...84,519,330
Ensembl chr 2:84,508,746...84,518,559
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Pck1
phosphoenolpyruvate carboxykinase 1, cytosolic
IAGP
MGI
PMID:11792850
NCBI chr 2:172,994,866...173,001,067
Ensembl chr 2:172,994,841...173,001,066
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
IAGP
MGI
PMID:26974159
NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
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Pparg
peroxisome proliferator activated receptor gamma
IAGP
MGI
PMID:14603033 PMID:15716267
NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
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Pten
phosphatase and tensin homolog
IAGP
MGI
PMID:27573812
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Reep1
receptor accessory protein 1
IAGP
MGI
PMID:27638887
NCBI chr 6:71,684,413...71,787,694
Ensembl chr 6:71,684,545...71,787,694
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Sh3pxd2b
SH3 and PX domains 2B
IAGP
MGI
PMID:27711054
NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173
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Trib1
tribbles pseudokinase 1
IAGP
MGI
PMID:23515163
NCBI chr15:59,520,503...59,528,948
Ensembl chr15:59,520,199...59,528,948
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Xpa
xeroderma pigmentosum, complementation group A
IAGP
MGI
PMID:17326724
NCBI chr 4:46,175,222...46,196,317
Ensembl chr 4:46,155,347...46,196,311
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